Progressive Myoclonic Epilepsy
Progressive Myoclonic Epilepsy (PME) is a group of rare neurological disorders characterized by myoclonic seizures, which are sudden, brief muscle jerks. These seizures often occur alongside other types of seizures and can lead to progressive neurological decline. PME can be caused by various genetic mutations and is often associated with conditions like Unverricht-Lundborg disease and Lafora disease.
Individuals with PME may experience additional symptoms, including ataxia (loss of coordination) and cognitive decline. Diagnosis typically involves clinical evaluation, genetic testing, and EEG monitoring. While there is no cure for PME, treatment options aim to manage seizures and improve quality of life.